Concordance of Genomic Variants in Matched Primary Breast Cancer, Metastatic Tumor, and Circulating Tumor DNA: The MIRROR Study

Author:

Moreno Fernando1,Gayarre Javier1,López-Tarruella Sara123,del Monte-Millán María1,Picornell Antonio C.1,Álvarez Enrique1,García-Saenz José Ángel1,Jerez Yolanda1,Márquez-Rodas Iván1,Echavarría Isabel1,Palomero Maribel1,Bueno Coralia4,Aragón Bodí Ana María5,Muñoz Marta Sanchez5,González del Val Ricardo1,Bueno Oscar2,Cebollero-Presmanes María3,Ocaña Inmaculada1,Arias Ainhoa1,Romero Paula1,Massarrah Tatiana1,Ramos-Medina Rocío1,Martín Miguel123

Affiliation:

1. Centro de Investigación Biomédica en Red Cáncer, Madrid, Spain

2. Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain

3. Universidad Complutense, Madrid, Spain

4. Hospital Infanta Cristina de Parla, Madrid, Spain

5. GENOMICA SAU, Madrid, Spain

Abstract

PURPOSE Genetic heterogeneity between primary tumors and their metastatic lesions has been documented in several breast cancer studies. However, the selection of therapy for patients with metastatic breast cancer and the search for biomarkers for targeted therapy are often based on findings from the primary tumor, mainly because of the difficulty of distant metastasis core biopsies. New methods for monitoring genomic changes in metastatic breast cancer are needed (ie, circulating tumor DNA [ctDNA] genomic analysis). The objectives of this study were to assess the concordance of genomic variants between primary and metastatic tumor tissues and the sensitivity of plasma ctDNA analysis to identify variants detected in tumor biopsies. PATIENTS AND METHODS Next-generation sequencing technology was used to assess the genomic mutation profile of a panel of 54 cancer genes in matched samples of primary tumor, metastatic tumor, and plasma from 40 patients with metastatic breast cancer. RESULTS Using Ion Torrent technology (ThermoFisher Scientific, Waltham, MA), we identified 110 variants that were common to the primary and metastatic tumors. ctDNA analysis had a sensitivity of 0.972 in detecting variants present in both primary and metastatic tissues. In addition, we identified 13 variants in metastatic tissue and ctDNA not present in primary tumor. CONCLUSION We identified genomic variants present in metastatic biopsies and plasma ctDNA that were not present in the primary tumor. Deep sequencing of plasma ctDNA detected most DNA variants previously identified in matched primary and metastatic tissues. ctDNA might aid in therapy selection and in the search for biomarkers for drug development in metastatic breast cancer.

Publisher

American Society of Clinical Oncology (ASCO)

Subject

Cancer Research,Oncology

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